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Doctor insights on:
Edward Syndrom

1

Not inherited:
Patau syndrome, or trisomy 13, is not inherited, in that a baby does not "get it" from either parent. It is usually caused when the egg does not divide properly at the time of fertilization. This accident causes a baby to get an extra number 13 chromosome in every one of its cells. Trisomy 13 is rare, but a very serious condition. Most babies with it die before birth or shortly after birth.
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2

Inherited Condition:
1 / 20, 000- 60, 000 newborns are born w/ this condition which can cause malformations of heart, lungs, kidneys, gut & genitalia. Affected babies often have small head size, fused second & third toes &sometimes extra fingers and toes. There can be learning and behavior problems from mild to approaching autism in severity. Infants may grow more slowly, have weaker muscle tone, & have feeding issues.
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4

Early Chromosome DX:
Dr edwards reported of the features of trisomy 18 in 1960 in the british journal the lancet. Drs patau & smith reported it in the same journal edition but the name edward syndrome has stuck. This was soon after the methods for preparing & counting chromosomes was available in research labs starting in the late 1950's.
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7

Edwards syndrome:
Edwards syndrome is better known as trisomy 18. It is caused by imperfect division of the chromosomes with an extra chromosome ending up in the embryo. That process can happen to anyone.
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9

Wow:
I have to think back to medical school- best to review with a pediatrician- it is a syndrome that has many characteristic, which can have degrees of severity and may or may not exist among those affected- in other words, not all affected are necessarily alike-: it is genetic, obesity, mental deficiencies, blindness, problems with kidney function, problems with gonads, extra fingers, diabetes, wea.
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11

Edwards syndrome:
This is another name for trisomy 18. Trisomy is a big word that means three copies. So trisomy 18 has three copies of the 18th chromosome. It can be discovered by an amniocentesis or cvs, and recently even a blood test.
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13

Crouzon:
Crouzon craniofacial dysostosis was described by crouzon in 1912. The genetic cause was not identified until 1994 and the credit goes to a number of different geneticists - reardon and preston independently helped narrow the genetic inheritance to the fgfr2 gene.
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14

45 X/0 Pattern:
At conception, one half of a set of 46 (23pairs) chromosomes (cms) is brought from egg & sperm.If the combination is missing one x of the sex cms, a female is born with 45 instead of 46 cms, to reflect the loss.The lost cms can effect every cell in the body, resulting in a variety of heart, kidney, brain or other problems. It also may cause no specific problem & not be noticed until lat childhood.
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16

A genetic disorder:
Usually from a deletion of a gene on the chromosome 15 inherited from the father, it can also come from having both chr 15's from the mother or both acting as if they came from mother. Infants have low muscle tone & trouble gaining weight; food craving & weight gain start about 18 mos. They have congenital anomalies, intellectual disability, compulsive behavior, & medical problems due to obesity.
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17

Antiphospholipids:
An autoimune disorder characterized by antibodies to certain phopholipids that predisposes to clotting problmes and pregnancy complications. A certain percentage will develop into systemic lupus.
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19

No:
Pallister killien is a random defect of the 12th chromosome. It has muliple far reaching effects. It is evidenced by hypotonia, developmental delay, itellectual impairment, coarse features, sparse hair. It is not hereditary. Once a person has it one can only cope with the defect to try to ameliorate the symptoms, ie hearing defects with a hearing aid, etc.
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